HNRNPH1 Gene
Heterogeneous Nuclear Ribonucleoprotein H1
Gene Information Card
| Symbol | HNRNPH1 |
|---|---|
| Full Name | Heterogeneous Nuclear Ribonucleoprotein H1 |
| Gene Type | Protein coding |
| Chromosomal Location | 5q35.3 |
| NCBI Gene ID | 3187 ncbi.nlm.nih.gov/gene/3187 |
| Ensembl ID | ENSG00000169045 |
| UniProt ID | P31943 |
| OMIM ID | 601035 |
| HGNC ID | 5041 |
| Aliases | HNRPH1, HNRPH, hnRNP H, hnRNPH1 |
Description
HNRNPH1 encodes a member of the heterogeneous nuclear ribonucleoprotein (hnRNP) H family, which is involved in pre-mRNA processing, splicing regulation, and RNA metabolism. The protein binds to G-rich sequences in RNA and plays a critical role in alternative splicing and transcript stability. Mutations in HNRNPH1 are associated with neurodevelopmental disorders and certain cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Neurodevelopmental disorder with hypotonia and brain abnormalities | Loss-of-function mutations impair RNA splicing, leading to neuronal dysfunction | ClinVar, PMID: 32513926 |
| Colorectal cancer | Altered splicing of oncogenes and tumor suppressors via HNRNPH1 dysregulation | COSMIC, PMID: 23431136 |
| Glioblastoma | Overexpression promotes tumor growth by modulating alternative splicing of apoptotic genes | COSMIC, PMID: 25691885 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 28.5 | High |
| Testis | 22.1 | High |
| Lung | 15.3 | Medium |
| Liver | 12.8 | Medium |
| Heart | 10.2 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 32.4 | High expression |
| HeLa | 27.1 | High expression |
| HepG2 | 18.6 | Medium expression |
| A549 | 14.3 | Medium expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.586C>T (p.Arg196*) | Nonsense | <0.01% | Loss of function, associated with neurodevelopmental disorder |
| c.743G>A (p.Arg248Gln) | Missense | <0.01% | Altered RNA binding, potential gain of function |
| c.1021_1022insA | Frameshift | <0.01% | Loss of function, truncation |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations leading to truncated protein or nonsense-mediated decay, associated with neurodevelopmental phenotypes.
Gain of Function (GOF)
Missense mutations in RNA-binding domains may alter splicing specificity, potentially contributing to oncogenic transformation.
Dominant Negative (DN)
Not well characterized; some missense variants may interfere with wild-type hnRNP H1 function in splicing complexes.
View complete mutation data：
Gene Ontology (GO)
| • RNA binding | • mRNA splicing |
| • via spliceosome | • nucleus |
| • nucleoplasm | • regulation of alternative mRNA splicing |
Pathways
• mRNA Splicing - Major Pathway
• Processing of Capped Intron-Containing Pre-mRNA
• Alternative Splicing
Protein Summary
HNRNPH1 is a 449-amino acid protein with three RNA recognition motifs (RRMs) and a glycine-rich C-terminal domain. It binds preferentially to G-rich sequences in pre-mRNA and regulates alternative splicing of numerous transcripts. The protein shuttles between nucleus and cytoplasm and is involved in telomere maintenance and DNA repair.
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